KEGG   VARIANT: 7879v1
Entry
7879v1                      Variant                                
Name
RAB7A mutation
Type
Loss of function
Gene
RAB7A  ras-related protein Rab-7a [KO:K07897]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602298
Network
nt06532  Autophagy
nt06536  Mitophagy
nt06550  Lysosome biogenesis
Disease
H00264  Charcot-Marie-Tooth disease
Reference
PMID:34483837
  Authors
Markworth R, Bahr M, Burk K
  Title
Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.
  Journal
Front Mol Neurosci 14:695294 (2021)
DOI:10.3389/fnmol.2021.695294
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